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Improved assay for genotyping haemophilia A carriers with intron 22 dinucleotide repeat marker
Author(s) -
SAHA A.,
MUKHERJEE S.,
RAY K.
Publication year - 2006
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1111/j.1365-2516.2006.01205.x
Subject(s) - genomics , genotyping , genetics , human genetics , library science , biology , computer science , genotype , genome , gene
Haemophilia A, the most common bleeding disorder\udcaused by defects in the Factor VIII gene (FVIII),\udaffects one in 5000 males worldwide. Due to the\udinherent instability of the gene, caused by the\udpresence of multiple copies of the same genomic\udregions, de novo mutation accounts for 40–50% of\udthe gene defects. In addition, heterogeneous mutations\udhave been detected covering its entire lengt